ClinVar Miner

Submissions for variant NM_017838.4(NHP2):c.270A>G (p.Val90=)

gnomAD frequency: 0.00121  dbSNP: rs148179279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231151 SCV000290366 benign Dyskeratosis congenita 2025-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820755 SCV002068565 uncertain significance not specified 2019-05-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000231151 SCV002527217 likely benign Dyskeratosis congenita 2021-01-26 criteria provided, single submitter curation

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